BGLAP (bone gamma-carboxyglutamate protein)

2007-02-01 Affiliation

Identity

HGNC

BGLAP

LOCATION

1q22

LOCUSID

632

ALIAS

BGP,OC,OCN

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 632
MIM: 112260
HGNC: 1043
Ensembl: ENSG00000242252

Variants:

dbSNP: 632
ClinVar: 632
TCGA: ENSG00000242252
COSMIC: BGLAP

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000242252	ENST00000368272	P02818

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Gamma carboxylation, hypusine formation and arylsulfatase activation	REACTOME	R-HSA-163841
Gamma-carboxylation, transport, and amino-terminal cleavage of proteins	REACTOME	R-HSA-159854
Gamma-carboxylation of protein precursors	REACTOME	R-HSA-159740
Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus	REACTOME	R-HSA-159763
Removal of aminoterminal propeptides from gamma-carboxylated proteins	REACTOME	R-HSA-159782

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA28660	GGCX	Gene	Pathway	associated

References

Pubmed ID	Year	Title	Citations
21333348	2011	Endocrine regulation of male fertility by the skeleton.	144
19088165	2009	Association between serum osteocalcin and markers of metabolic phenotype.	100
19063687	2009	Plasma osteocalcin is inversely related to fat mass and plasma glucose in elderly Swedish men.	82
21425331	2011	GPRC6A mediates responses to osteocalcin in β-cells in vitro and pancreas in vivo.	70
19877133	2009	The uncarboxylated form of osteocalcin is associated with improved glucose tolerance and enhanced beta-cell function in middle-aged male subjects.	59
22102412	2012	BMP2 protein regulates osteocalcin expression via Runx2-mediated Atf6 gene transcription.	49
24893146	2014	Regulation of energy metabolism by the skeleton: osteocalcin and beyond.	42
18285546	2008	A PAI-1 (SERPINE1) polymorphism predicts osteonecrosis in children with acute lymphoblastic leukemia: a report from the Children's Oncology Group.	41
20395593	2010	Serum osteocalcin is associated with measures of insulin resistance, adipokine levels, and the presence of metabolic syndrome.	40
20501596	2010	Reduced serum total osteocalcin is associated with metabolic syndrome in older men via waist circumference, hyperglycemia, and triglyceride levels.	38

Citation

Dessen P

BGLAP (bone gamma-carboxyglutamate protein)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/50008/bglap-(bone-gamma-carboxyglutamate-protein)